NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) AND Non-small cell lung carcinoma

Clinical significance:Pathogenic (Last evaluated: Jul 14, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000038380.3

Allele description [Variation Report for NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)]

NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)

Gene:
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)
Other names:
EGFR, GLY719CYS (rs28929495)
HGVS:
  • NC_000007.14:g.55174014G>T
  • NG_007726.3:g.159983G>T
  • NM_001346897.2:c.2020G>T
  • NM_001346898.2:c.2155G>T
  • NM_001346899.2:c.2020G>T
  • NM_001346900.2:c.1996G>T
  • NM_001346941.2:c.1354G>T
  • NM_005228.5:c.2155G>TMANE SELECT
  • NP_001333826.1:p.Gly674Cys
  • NP_001333827.1:p.Gly719Cys
  • NP_001333828.1:p.Gly674Cys
  • NP_001333829.1:p.Gly666Cys
  • NP_001333870.1:p.Gly452Cys
  • NP_005219.2:p.Gly719Cys
  • LRG_304t1:c.2155G>T
  • LRG_304:g.159983G>T
  • NC_000007.13:g.55241707G>T
  • NM_005228.3:c.2155G>T
  • P00533:p.Gly719Cys
  • c.2155G>T
Protein change:
G452C; GLY719CYS
Links:
UniProtKB: P00533#VAR_026087; OMIM: 131550.0004; dbSNP: rs28929495
NCBI 1000 Genomes Browser:
rs28929495
Molecular consequence:
  • NM_001346897.2:c.2020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.2:c.2020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.1996G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2155G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
14

Condition(s)

Name:
Non-small cell lung carcinoma (NSCLC)
Synonyms:
Non-small cell lung cancer
Identifiers:
MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062052Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedPathogenic
(Nov 23, 2009)
somaticclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000504231Database of Curated Mutations (DoCM)no assertion criteria providedPathogenic
(Jul 14, 2015)
somaticliterature only

PubMed (13)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided1414not providednot providednot providedclinical testing
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Second-line treatments after first-line gefitinib therapy in advanced nonsmall cell lung cancer.

Wu JY, Shih JY, Yang CH, Chen KY, Ho CC, Yu CJ, Yang PC.

Int J Cancer. 2010 Jan 1;126(1):247-55. doi: 10.1002/ijc.24657.

PubMed [citation]
PMID:
19536777

Activity of epidermal growth factor receptor-tyrosine kinase inhibitors in patients with non-small cell lung cancer harboring rare epidermal growth factor receptor mutations.

De Pas T, Toffalorio F, Manzotti M, Fumagalli C, Spitaleri G, Catania C, Delmonte A, Giovannini M, Spaggiari L, de Braud F, Barberis M.

J Thorac Oncol. 2011 Nov;6(11):1895-901. doi: 10.1097/JTO.0b013e318227e8c6.

PubMed [citation]
PMID:
21841502
See all PubMed Citations (15)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062052.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided14not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided14not provided14not provided

From Database of Curated Mutations (DoCM), SCV000504231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (13)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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